A novel NPHS1 mutation associated with temporary elevation of maternal serum alfa-fetoprotein and late onset of proteinuria

Author(s):  
Gizem Yıldız ◽  
Meral Torun Bayram ◽  
Alper Soylu ◽  
Salih Kavukçu
2021 ◽  
pp. 1-9
Author(s):  
Anita Virtanen ◽  
Outi Huttala ◽  
Kati Tihtonen ◽  
Tarja Toimela ◽  
Tuula Heinonen ◽  
...  

<b><i>Objective:</i></b> To determine the direct effect of pravastatin on angiogenesis and to study the interaction between pravastatin and maternal sera from women with early- or late-onset pre-eclampsia (PE), intrauterine growth restriction, or healthy pregnancy. <b><i>Methods:</i></b> We collected 5 maternal serum samples from each group. The effect of pravastatin on angiogenesis was assessed with and without maternal sera by quantifying tubule formation in a human-based in vitro assay. Pravastatin was added at 20, 1,000, and 8,000 ng/mL concentrations. Concentrations of angiogenic and inflammatory biomarkers in serum and in test medium after supplementation of serum alone and with pravastatin (1,000 ng/mL) were measured. <b><i>Results:</i></b> Therapeutic concentration of pravastatin (20 ng/mL) did not have significant direct effect on angiogenesis, but the highest concentrations inhibited angiogenesis. Pravastatin did not change the levels of biomarkers in the test media. There were no changes in angiogenesis when therapeutic dose of pravastatin was added with maternal sera, but there was a trend to wide individual variation towards enhanced angiogenesis, particularly in the early-onset PE group. <b><i>Conclusions:</i></b> At therapeutic concentration, pravastatin alone or with maternal sera has no significant effect on angiogenesis, but at high concentrations the effect seems to be anti-angiogenic estimated by in vitro assay.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
L. Ormesher ◽  
L. Warrander ◽  
Y. Liu ◽  
S. Thomas ◽  
L. Simcox ◽  
...  

AbstractAbnormal maternal serum biomarkers (AMSB), identified through the aneuploidy screening programme, are frequent incidental findings in pregnancy. They are associated with fetal growth restriction (FGR), but previous studies have not examined whether this association is with early-onset (< 34 weeks) or late-onset (> 34 weeks) FGR; as a result there is no consensus on management. The aims of this study were to determine the prevalence and phenotype of FGR in women with AMSB and test the predictive value of placental sonographic screening to predict early-onset FGR. 1196 pregnant women with AMSB underwent a 21–24 week “placental screen” comprising fetal and placental size, and uterine artery Doppler. Multivariable regression was used to calculate a predictive model for early-onset FGR (birthweight centile < 3rd/< 10th with absent umbilical end-diastolic flow, < 34 weeks). FGR prevalence was high (10.3%), however early-onset FGR was uncommon (2.3%). Placental screening effectively identified early-onset (area under the curve (AUC) 0.93, 95% confidence interval (CI) 0.87–1.00), but not late-onset FGR (AUC 0.70, 95% CI 0.64–0.75). Internal validation demonstrated robust performance for detection/exclusion of early-onset FGR. In this cohort, utilisation of our proposed algorithm with targeted fetal growth and Doppler surveillance, compared with universal comprehensive surveillance would have avoided 1044 scans, potentiating significant cost-saving for maternity services.


2017 ◽  
Vol 2017 ◽  
pp. 1-9 ◽  
Author(s):  
Marzena Laskowska

Objective. The aim of this study was to determine whether maternal serum matrix metalloproteinases 2, 3, 9, and 13 levels differ in early- and late-onset preeclampsia and uncomplicated pregnancies. Patients and Methods. The study was carried out in 125 pregnant women (29 with early-onset preeclampsia; 31 preeclamptic patients with late-onset preeclampsia; and 65 healthy pregnant controls). Levels of MMP-2, MMP-3, MMP-9, and MMP-13 were measured in the maternal serum using an enzyme-linked immunosorbent assay. Results. Maternal serum MMP-2 levels in both the groups of preeclamptic women were significantly higher than those in the controls. Levels of MMP-3 were significantly higher in preeclamptic patients with early-onset disease; however, the MMP-3 levels in patients with late-onset preeclampsia were similar to those observed in the control subjects. MMP-9 levels were lower whereas the levels of MMP-13 were higher in both preeclamptic groups of pregnant women than in the healthy controls, but these differences were statistically insignificant. Conclusions. One important finding of the present study was that MMP-3 appears to be involved solely in early-onset preeclampsia, but not in late-onset preeclampsia. Higher levels of MMP-2 and MMP-13 and lower levels of MMP-9 seem to be related to both early- and late-onset severe preeclampsia.


2015 ◽  
Vol 54 (4) ◽  
pp. 350-354 ◽  
Author(s):  
Abdullah Tuten ◽  
Mahmut Oncul ◽  
Mine Kucur ◽  
Metehan Imamoglu ◽  
Ozlem Balcı Ekmekci ◽  
...  
Keyword(s):  

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Saeedeh Salimi ◽  
Farzaneh Farajian-Mashhadi ◽  
Anoosh Naghavi ◽  
Mojgan Mokhtari ◽  
Mahnaz Shahrakipour ◽  
...  

Aim. This study was designed to clarify the role of leptin and adiponectin in preeclampsia (PE) pathogenesis and different subtypes of preeclampsia.Method. This case control study was performed in 45 PE patients and 45 healthy controls matched for age, BMI, and ethnicity. Serum leptin and adiponectin levels were determined by enzyme linked immunosorbent assay (ELISA).Results. Maternal serum leptin and adiponectin were significantly higher in PE women than controls. Serum leptin was elevated in early onset preeclampsia (EOPE) and late onset preeclampsia (LOPE) compared to controls. Among PE patients, serum leptin was higher in EOPE than LOPE women. However, serum adiponectin was not different between EOPE and LOPE women. The serum leptin was significantly higher in severe PE than mild PE. The serum adiponectin was significantly elevated in severe PE compared to controls. Significant positive correlation was observed between leptin and adiponectin and also between leptin and BMI in controls. Moreover significant positive correlation was observed between adiponectin and BMI in PE patients and controls.Conclusion. The present study showed that serum leptin level may play a significant role as a biomarker to differentiate early and late onset PE and also its relation to BMI and severity of disease.


Author(s):  
Vincenzo Pinto ◽  
Angela Cristina Rossi

ABSTRACT Mild ventriculomegaly (VM), also defined as “borderline”, is a condition characterized by an atrial width between 10 and 15 mm independently from gestational age. Fetuses with mild ventriculomegaly require an accurate morphological examination to rule out for associated neural and extraneural anomalies. The percentage of this association is 41%. However, in almost 13% of cases, the associated anomaly is not recognized at the time of the initial presentation. It is important to monitor the atrial width during the third trimester because in 15% of the cases it increases. Most of the cases missed at the first examination have a late onset diseases (migrational disorders, parenchimal damage, hemorrhage, etc). For these conditions MRI may play a useful role. Maternal serum tests for congenital infections should be performed, since infections may be the cause of mild VM in 1.5% of the cases. Fetal karyotype should also be evaluated, since chromosomal abnormalities may be associated in 2.8% of the cases of isolated VM. The counseling in cases of apparently isolated mild VMs focuses on the possibility of neurodevelopmental delay in the surviving infants. The average percentage of neurodevelopmental delay reported in the literature is 10.9%. The possibility of late onset brain anomalies must be considered. In conclusion, the most important prognostic factors are the association with other abnormalities not detected at the first examination and the progression of the ventricular dilatation.


2014 ◽  
Vol 33 (4) ◽  
pp. 467-475 ◽  
Author(s):  
Mine Kucur ◽  
Abdullah Tuten ◽  
Mahmut Oncul ◽  
Abdullah Serdar Acikgoz ◽  
Mehmet Aytac Yuksel ◽  
...  
Keyword(s):  

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Maria P. H. Koster ◽  
Rob J. Vreeken ◽  
Amy C. Harms ◽  
Adrie D. Dane ◽  
Sylwia Kuc ◽  
...  

Objective. To expand the search for preeclampsia (PE) metabolomics biomarkers through the analysis of acylcarnitines in first-trimester maternal serum.Methods. This was a nested case-control study using serum from pregnant women, drawn between 8 and 14 weeks of gestational age. Metabolites were measured using an UPLC-MS/MS based method. Concentrations were compared between controls (n=500) and early-onset- (EO-) PE (n=68) or late-onset- (LO-) PE (n=99) women. Metabolites with a false discovery rate <10% for both EO-PE and LO-PE were selected and added to prediction models based on maternal characteristics (MC), mean arterial pressure (MAP), and previously established biomarkers (PAPPA, PLGF, and taurine).Results. Twelve metabolites were significantly different between EO-PE women and controls, with effect levels between −18% and 29%. For LO-PE, 11 metabolites were significantly different with effect sizes between −8% and 24%. Nine metabolites were significantly different for both comparisons. The best prediction model for EO-PE consisted of MC, MAP, PAPPA, PLGF, taurine, and stearoylcarnitine (AUC = 0.784). The best prediction model for LO-PE consisted of MC, MAP, PAPPA, PLGF, and stearoylcarnitine (AUC = 0.700).Conclusion. This study identified stearoylcarnitine as a novel metabolomics biomarker for EO-PE and LO-PE. Nevertheless, metabolomics-based assays for predicting PE are not yet suitable for clinical implementation.


2017 ◽  
Vol 45 (7) ◽  
Author(s):  
Qiong Luo ◽  
Xiujun Han

AbstractAim:To determine whether late second-trimester maternal serum biomarkers are useful for the prediction of preeclampsia during the third trimester, a case-control study including 33 preeclamptic and 71 healthy pregnancies was conducted. Maternal serum concentrations of placental protein 13 (PP13), pregnancy-associated plasma protein (PAPP-A), pentraxin3 (PTX3), soluble FMS-like tyrosine kinase-1 (sFlt-1), myostatin and follistatin-like-3 (FSLT-3) were measured at 24–28 weeks’ gestation. All the concentrations of these markers were compared between the preeclamptic and control groups. Receiver operating characteristic (ROC) curve analysis was applied to assess sensitivity and specificity of serum markers with significant difference.Results:The levels of PP13 and sFlt-1 were significantly increased and FSLT3 was significantly decreased in patients with preeclampsia. However, the concentration of PAPPA, PTX3 and myostatin did not differ significantly. In screening for preeclampsia during the third trimester by PP13, sFlt-1 and FSLT3, the detection rate was 61.3%, 48.1% and 39.1%, respectively, at 80% specificity, and the detection rate increased to 69.8% by combination of these three markers.Conclusion:Maternal serum levels of PP13, sFlt-1 and FSLT3 play an important role in predicting late-onset preeclampsia, and the combination of these three markers significantly increases the detection rate for prediction.


Author(s):  
Archana Kumari ◽  
Vahini M.

Background: A major challenge in obstetrics is early identification of hypertensive disorders of pregnancy (HDP). This study was performed to determine the association between elevated maternal serum β-hCG levels and HDP, the correlation between serum β-hCG level and severity of preeclampsia and to determine the value of serum β-hCG level as a diagnostic marker for early diagnosis of HDP.Methods: This was a hospital based observational study conducted in the department of obstetrics and gynecology, Rajendra Institute of Medical Sciences, Ranchi on 375 pregnant women with period of gestation more than 20 weeks, including 250 pregnant women with HDP as study group and 125 normotensive pregnant women as controls. Serum β-hCG concentration was measured and its level was compared between two groups.Results: The maternal mean serum β-hCG levels (51161.08±30038.21 IU/L) of study group of HDP were higher than the normotensive control group (17603.23±16748.21 IU/L). In non-severe preeclampsia, the mean serum levels were 36417.32±23876.74 IU/L while in severe preeclampsia, 60030.34±28771.31 IU/L. There was statistically significant difference (p<0.001) with higher levels in early onset preeclamptic mothers than late onset preeclampsia. The cut-off point of β-hCG for predicting HDP was 32077 IU/L with sensitivity of 65% and specificity of 86%.Conclusions: Serum β-hCG level is higher in HDP when compared to normotensive women. Higher levels of β-hCG are associated with increasing severity of hypertensive disorders of pregnancy. The utility of serum β-hCG as a diagnostic test is limited because of low sensitivity and difficulty in deciding the cut-off value.


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